Canonical Allele Identifier: CA2579926524

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965294_87965295delinsAA , CM000672.2:g.87965294_87965295delinsAA	GRCh38
NC_000010.10:g.89725051_89725052delinsAA , CM000672.1:g.89725051_89725052delinsAA	GRCh37
NC_000010.9:g.89715031_89715032delinsAA	NCBI36
NG_007466.2:g.106856_106857delinsAA , LRG_311:g.106856_106857delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1127_1128delinsAA	ENSP00000514759.2:p.Leu376Gln
ENST00000710265.1:c.*63_*64delinsAA	ENSP00000518161.1:n.*63_*64delinsAA
ENST00000688158.2:n.1769_1770delinsAA
ENST00000688922.2:c.*864_*865delinsAA	ENSP00000508742.2:n.*864_*865delinsAA
ENST00000700021.1:c.989_990delinsAA	ENSP00000514757.1:p.Leu330Gln
ENST00000700022.1:c.*373_*374delinsAA	ENSP00000514758.1:n.*373_*374delinsAA
ENST00000700023.1:n.2192_2193delinsAA
ENST00000700024.1:n.2426_2427delinsAA
ENST00000706954.1:c.1034_1035delinsAA	ENSP00000516674.1:p.Leu345Gln
ENST00000706955.1:c.*1069_*1070delinsAA	ENSP00000516675.1:n.*1069_*1070delinsAA
ENST00000686459.1:c.*620_*621delinsAA	ENSP00000508909.1:n.*620_*621delinsAA
ENST00000688158.1:c.*1145_*1146delinsAA	ENSP00000509254.1:n.*1145_*1146delinsAA
ENST00000688308.1:c.1034_1035delinsAA	ENSP00000508752.1:p.Leu345Gln
ENST00000688922.1:c.955_956delinsAA
ENST00000693560.1:c.1553_1554delinsAA	ENSP00000509861.1:p.Leu518Gln
ENST00000371953.8:c.1034_1035delinsAA MANE Select	ENSP00000361021.3:p.Leu345Gln
ENST00000371953.7:c.1034_1035delinsAA	ENSP00000361021.3:p.Leu345Gln
NM_000314.5:c.1034_1035delinsAA	NP_000305.3:p.Leu345Gln
NM_000314.6:c.1034_1035delinsAA	NP_000305.3:p.Leu345Gln
NM_001304717.2:c.1553_1554delinsAA	NP_001291646.2:p.Leu518Gln
NM_001304718.1:c.443_444delinsAA	NP_001291647.1:p.Leu148Gln
XM_006717926.2:c.989_990delinsAA	XP_006717989.1:p.Leu330Gln
XM_011539982.1:c.938_939delinsAA	XP_011538284.1:p.Leu313Gln
XR_945791.1:n.1604_1605delinsAA
NM_000314.7:c.1034_1035delinsAA	NP_000305.3:p.Leu345Gln
NM_001304717.5:c.1553_1554delinsAA	NP_001291646.4:p.Leu518Gln
NM_001304718.2:c.443_444delinsAA	NP_001291647.1:p.Leu148Gln
NM_000314.8:c.1034_1035delinsAA MANE Select	NP_000305.3:p.Leu345Gln